Inborn errors of metabolism
Gene: PIGMComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).Created: 19 Aug 2019, 3:45 p.m. | Last Modified: 19 Aug 2019, 3:45 p.m.
Panel Version: 1.232
Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyCreated: 19 Aug 2019, 3:23 p.m. | Last Modified: 19 Aug 2019, 3:23 p.m.
Panel Version: 1.228
Added tags to indicate a promoter variant has been reported.Created: 1 Mar 2017, 11:54 a.m.
Associated with phenotype in OMIM, not in G2P. At least 1 promoter variant reported in 3 cases from 2 unrelated consanguineous families. PIGM is subject to cell-type specific transcriptional regulationCreated: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol deficiency 610293
Publications
Gene: pigm has been classified as Amber List (Moderate Evidence).
Gene: pigm has been classified as Amber List (Moderate Evidence).
Gene: pigm has been classified as Amber List (Moderate Evidence).
Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906
Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906; 25293775
Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Phenotypes for gene: PIGM were changed from Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Glycosylphosphatidylinositol deficiency 610293; Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency to Glycosylphosphatidylinositol deficiency 610293
Source NHS GMS was added to PIGM. Source London North GLH was added to PIGM.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 for gene: PIGM
gene: PIGM was added gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 27604308; 16767100; 25293775 Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency